| http://purl.uniprot.org/citations/1353340 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1353340 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1353340 | http://www.w3.org/2000/01/rdf-schema#comment | "We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. A comparison of genotypes, ARSA activities, and clinical data on 4 individuals carrying the allele of 81 patients with MLD examined, further validates the concept that different degrees of residual ARSA activity are the basis of phenotypical variation in MLD."xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.410310305"xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.410310305"xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/author | "von Figura K."xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/author | "von Figura K."xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/author | "Gieselmann V."xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/author | "Gieselmann V."xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/author | "Kappler J."xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/author | "Kappler J."xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/name | "Ann. Neurol."xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/name | "Ann. Neurol."xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/pages | "256-261"xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/pages | "256-261"xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/title | "Late-onset metachromatic leukodystrophy: molecular pathology in two siblings."xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/title | "Late-onset metachromatic leukodystrophy: molecular pathology in two siblings."xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/volume | "31"xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://purl.uniprot.org/core/volume | "31"xsd:string |
| http://purl.uniprot.org/citations/1353340 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/1353340 |
| http://purl.uniprot.org/citations/1353340 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/1353340 |
| http://purl.uniprot.org/citations/1353340 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/1353340 |
| http://purl.uniprot.org/citations/1353340 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/1353340 |